The EMBO Journal (2012) 31, 1336 - 1349, doi:10.1038/emboj.2012.38
Elena I Rugarli 1,2 and Thomas Langer 2,3,4
1 Institute for Zoology, University of Cologne, Cologne, Germany
2 Center for Molecular Medicine (CMMC) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
3 Institute for Genetics, University of Cologne, Cologne, Germany
4 Max-Planck-Institute for Biology of Aging, Cologne, Germany
Keywords: mitochondria, mitochondrial fusion, mitophagy, mitochondrial proteases, neurodegeneration
Thursday, March 22, 2012
Monogenic Mitochondrial Disorders
N Engl J Med 2012; 366:1132-1141March 22, 2012
Werner J.H. Koopman, Ph.D., Peter H.G.M. Willems, Ph.D., and Jan A.M. Smeitink, Ph.D.
From the Department of Biochemistry, Nijmegen Center for Molecular Life Sciences (W.J.H.K., P.H.G.M.W.), and the Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders (J.A.M.S.) — both at Radboud University Medical Center, Nijmegen, the Netherlands.
Review Article
Werner J.H. Koopman, Ph.D., Peter H.G.M. Willems, Ph.D., and Jan A.M. Smeitink, Ph.D.
From the Department of Biochemistry, Nijmegen Center for Molecular Life Sciences (W.J.H.K., P.H.G.M.W.), and the Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders (J.A.M.S.) — both at Radboud University Medical Center, Nijmegen, the Netherlands.
Review Article
The many faces of insulin-like peptide signalling in the brain
Nature Reviews Neuroscience 13, 225-239 (April 2012) | doi:10.1038/nrn3209
Ana M. Fernandez & Ignacio Torres-Alemán
Keywords: insulin-like peptides (ILPs), insulin, insulin-like growth factor 1 (IGF1) and IGF2, brain, regulate energy homeostasis.
Comment: The IGF-1 has been proposed as a possible FA treatment by several researchers, it have even performed a clinical trial proof of concept, the results has been inconclusive because of its short duration and small number of participants
Ana M. Fernandez & Ignacio Torres-Alemán
Keywords: insulin-like peptides (ILPs), insulin, insulin-like growth factor 1 (IGF1) and IGF2, brain, regulate energy homeostasis.
Comment: The IGF-1 has been proposed as a possible FA treatment by several researchers, it have even performed a clinical trial proof of concept, the results has been inconclusive because of its short duration and small number of participants
Tuesday, March 20, 2012
High Resolution Melting: improvements in the genetic diagnosis of Hypertrophic Cardiomyopathy in a Portuguese cohort
BMC Medical Genetics 2012, 13:17 doi:10.1186/1471-2350-13-17
Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira
Vasco Lanca, Dulce Brito, Hugo Madeira, Esteves J Fonseca, Antonio Freitas,
Isabel M Carreira, Isabel M Gaspar, Carolino Monteiro, Alexandra R Fernandes.
OPEN ACCESS
Keywords: Hypertrophic cardiomyopathy, Gene-based diagnosis, High Resolution Melting, Sarcomere proteins, CSRP3 gen, FXN gene.
Background: Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine.
Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira
Vasco Lanca, Dulce Brito, Hugo Madeira, Esteves J Fonseca, Antonio Freitas,
Isabel M Carreira, Isabel M Gaspar, Carolino Monteiro, Alexandra R Fernandes.
OPEN ACCESS
Keywords: Hypertrophic cardiomyopathy, Gene-based diagnosis, High Resolution Melting, Sarcomere proteins, CSRP3 gen, FXN gene.
Background: Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine.
Thursday, March 15, 2012
Repligen Initiates Phase 1 Clinical Trial of RG2833 in Patients with Friedreich's Ataxia
WALTHAM, MA - March 15, 2012 - Repligen Corporation (NASDAQ:RGEN) announced today that it has enrolled its first patient in a Phase 1 clinical trial of RG2833 in adult patients with Friedreich's ataxia (FA). read more .....
Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres
European Journal of Human Genetics (2012) 20, 368–375; doi:10.1038/ejhg.2011.202.
Maartje C Van Rij, Marjan De Rademaeker, Céline Moutou, Jos CFM Dreesen, Martine De Rycke, Inge Liebaers, Joep PM Geraedts, Christine EM De Die-Smulders and Stéphane Viville.
Keywords: preimplantation genetic diagnosis (PGD); Huntington's disease (HD); HTT gene; exclusion testing; delivery rates; prenatal diagnosis
Full text PDF
Inheritance patterns of the huntington (autosomal dominant) differ from the friedreich's ataxia (autosomal recessive), but sometimes the future parents know that are carriers before the pregnancy, then, this techniques could be useful. (Important note: this is only scientific information, perhaps some people may have ethical objections with these practices)
Maartje C Van Rij, Marjan De Rademaeker, Céline Moutou, Jos CFM Dreesen, Martine De Rycke, Inge Liebaers, Joep PM Geraedts, Christine EM De Die-Smulders and Stéphane Viville.
Keywords: preimplantation genetic diagnosis (PGD); Huntington's disease (HD); HTT gene; exclusion testing; delivery rates; prenatal diagnosis
Full text PDF
Inheritance patterns of the huntington (autosomal dominant) differ from the friedreich's ataxia (autosomal recessive), but sometimes the future parents know that are carriers before the pregnancy, then, this techniques could be useful. (Important note: this is only scientific information, perhaps some people may have ethical objections with these practices)
Do we always prioritize balance when walking? Towards an integrated model of task prioritization
Mov. Disord.. doi: 10.1002/mds.24963
Yogev- Seligmann, G., Hausdorff, J. M. and Giladi, N. (2012), .
Keywords: dual task, postural control, prioritization executive function, motor and cognitive capabilities, gait, fall risk, neurological diseases.
Yogev- Seligmann, G., Hausdorff, J. M. and Giladi, N. (2012), .
Keywords: dual task, postural control, prioritization executive function, motor and cognitive capabilities, gait, fall risk, neurological diseases.
Wednesday, March 14, 2012
Expression of axonal protein degradation machinery in sympathetic neurons is regulated by nerve growth factor
J. Neurosci. Res.. (2012) doi: 10.1002/jnr.23041
Frampton, J. P., Guo, C. and Pierchala, B. A.
Keywords: proteasome, lysosome, NGF, transport, autophagy.
In Friedreich's ataxia research currently there is a work line about the frataxin's degradation by the proteasome , the idea is seeking to delay the degradation of frataxin, and therefore lengthen the shelf life.
References:
Preventing the ubiquitin/proteasome-dependent degradation of frataxin, the protein defective in Friedreich’s Ataxia
New project: Identification of the E3 ligase that ubiquitinates frataxin
Frampton, J. P., Guo, C. and Pierchala, B. A.
Keywords: proteasome, lysosome, NGF, transport, autophagy.
In Friedreich's ataxia research currently there is a work line about the frataxin's degradation by the proteasome , the idea is seeking to delay the degradation of frataxin, and therefore lengthen the shelf life.
References:
Preventing the ubiquitin/proteasome-dependent degradation of frataxin, the protein defective in Friedreich’s Ataxia
New project: Identification of the E3 ligase that ubiquitinates frataxin
Cardiac Dysfunction Exacerbated by Endocrinopathies in Friedreich Ataxia: A Case Series.
J Child Neurol. 2012 Mar 8. [Epub ahead of print]
Snyder M, Seyer L, Lynch DR, Resnick A, Zesiewicz TA.
Keywords: Friedreich ataxia, gait abnormalities, cardiomyopathy, diabetes, congestive heart failure, frataxin deficiency, oxidative damage, metabolic syndrome, diabetes.
Snyder M, Seyer L, Lynch DR, Resnick A, Zesiewicz TA.
Keywords: Friedreich ataxia, gait abnormalities, cardiomyopathy, diabetes, congestive heart failure, frataxin deficiency, oxidative damage, metabolic syndrome, diabetes.
Tuesday, March 13, 2012
Exonic Deletions of FXN and Early-Onset Friedreich Ataxia
Arch Neurol. Published online March 12, 2012. doi:10.1001/archneurol.2011.834
Mathieu Anheim, MD, PhD; Louise-Laure Mariani, MD; Patrick Calvas, MD, PhD; Emmanuel Cheuret, MD; Fabien Zagnoli, MD; Sylvie Odent, MD; Claire Seguela, BS; Cecilia Marelli, MD; Marlène Fritsch, BS; Jean-Pierre Delaunoy, PhD; Alexis Brice, MD, PhD; Alexandra Dürr, MD, PhD; Michel Koenig, MD, PhD
Université Pierre et Marie Curie, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre National de la Recherche Scientifique (CNRS) (Drs Anheim, Marelli, Brice, and Dürr), Assistance publique–Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics (Drs Anheim, Mariani, Marelli, Brice, and Dürr), and Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adulte (Drs Anheim, Marelli, Brice, and Dürr), Paris, Service de Génétique Médicale, Université de Toulouse, Hôpital Purpan (Dr Calvas), and Service de neuropédiatrie, Hopital des enfants (Dr Cheuret), Toulouse, Neurologie Hôpital d’Instruction des Armées Clermont-Tonnerre, Brest (Dr Zagnoli), Service de Génétique clinique CHU de Rennes, Université Rennes 1, CNRS (Dr Odent), Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Strasbourg (Mesdames Seguela and Fritsch and Drs Delaunoy and Koenig), and Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS, Université de Strasbourg, INSERM, Illkirch (Dr Koenig), France.
Keywords: Friedreich ataxia (FA), early onset, homozygous GAA expansions, FXN gene, point mutation, exonic deletion mutation (FAexdel), confinement to wheelchair, scoliosis, diabetes mellitus, cardiomyopathy.
Mathieu Anheim, MD, PhD; Louise-Laure Mariani, MD; Patrick Calvas, MD, PhD; Emmanuel Cheuret, MD; Fabien Zagnoli, MD; Sylvie Odent, MD; Claire Seguela, BS; Cecilia Marelli, MD; Marlène Fritsch, BS; Jean-Pierre Delaunoy, PhD; Alexis Brice, MD, PhD; Alexandra Dürr, MD, PhD; Michel Koenig, MD, PhD
Université Pierre et Marie Curie, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre National de la Recherche Scientifique (CNRS) (Drs Anheim, Marelli, Brice, and Dürr), Assistance publique–Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics (Drs Anheim, Mariani, Marelli, Brice, and Dürr), and Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adulte (Drs Anheim, Marelli, Brice, and Dürr), Paris, Service de Génétique Médicale, Université de Toulouse, Hôpital Purpan (Dr Calvas), and Service de neuropédiatrie, Hopital des enfants (Dr Cheuret), Toulouse, Neurologie Hôpital d’Instruction des Armées Clermont-Tonnerre, Brest (Dr Zagnoli), Service de Génétique clinique CHU de Rennes, Université Rennes 1, CNRS (Dr Odent), Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Strasbourg (Mesdames Seguela and Fritsch and Drs Delaunoy and Koenig), and Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS, Université de Strasbourg, INSERM, Illkirch (Dr Koenig), France.
Keywords: Friedreich ataxia (FA), early onset, homozygous GAA expansions, FXN gene, point mutation, exonic deletion mutation (FAexdel), confinement to wheelchair, scoliosis, diabetes mellitus, cardiomyopathy.
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